A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.

ABSTRACT:

Background

Congenital hearing loss is one of the most common birth defects. Early identification and management play a crucial role in improving patients' communication and language acquisition. Previous studies demonstrated that genetic screening complements newborn hearing screening in clinical settings.

Methods

We developed a multiplex PCR amplicon sequencing assay to sequence the full coding region of the GJB2 gene, the most pathogenic variants of the SLC26A4 gene, and hotspot variants in the MT-RNR1 gene. The sensitivity, specificity, and reliability were validated via samples with known genotypes. Finally, a pilot study was performed on 300 anonymous dried blood samples.

Results

Of 103 samples with known genotypes, the multiplex PCR amplicon sequencing assay acc

SUBMITTER: Yang H 

PROVIDER: S-EPMC7913202 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature